Gene
NAF1
nuclear assembly factor 1 ribonucleoprotein
- HGNC 25126(opens in a new tab)
- Ensembl gene ENSG00000145414(opens in a new tab)
- NCBI Gene 92345(opens in a new tab)
Summary
- Cytogenetic location
- 4q32.2
- Coordinates
- Chromosome 4: 163,128,669–163,166,890 (GRCh38)
- Exons
- 8 exons across 38.2 kb
- Protein
- 494 amino acids
- MANE Select transcript
- ENST00000274054.3NM_138386.3
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Get my Genome TestCurated reports relevant to this gene
Dyskeratosis Congenita
- Telomere syndromes
Disorders of short telomeres caused by variants in telomere-maintenance genes such as TERT, TERC, RTEL1 and PARN, which can cause bone marrow failure, lung fibrosis and liver disease even without classic skin signs.
- ClinGen rates the link definitive
- 2 GenCC submitters rate it definitive or strong
What knowing changes
Monitoring of blood counts, lungs and liver is advised, and the diagnosis informs donor selection and treatment choices for stem cell transplantation.
Familial Pulmonary Fibrosis
- Telomere-related Pulmonary Fibrosis and/or Bone Marrow Failure
Variants in telomere-maintenance genes such as TERT, TERC, RTEL1 and PARN can cause progressive pulmonary fibrosis in adulthood, sometimes together with bone marrow failure or liver disease.
- ClinGen rates the link definitive
- 2 GenCC submitters rate it definitive or strong
What knowing changes
Knowing can prompt earlier lung monitoring and treatment, screening for blood and liver involvement, care with immunosuppressive drugs around transplant, and careful selection of related donors.
How NAF1 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 1.9 kb of the gene's 38.2 kb; 1,485 of those bases code for the protein.
How a genome test reads NAF1
1
position in NAF1 where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 38.2 kb of NAF1, introns included, not only the 1.9 kb of exons.
Traits linked to NAF1
The Human Phenotype Ontology lists these as features of the rare conditions NAF1 can cause. Each trait's page lists the other genes linked to it.
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). NAF1 gene: nuclear assembly factor 1 ribonucleoprotein. Retrieved 17 October 2026, from https://dantelabs.com/genes/naf1
Dante Labs. NAF1 gene: nuclear assembly factor 1 ribonucleoprotein [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/naf1
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